Variant report

Variant	rs12418412
Chromosome Location	chr11:34072011-34072012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:34071864-34072016	K562	blood:	n/a	n/a
2	TBL1XR1	chr11:34071837-34072024	K562	blood:	n/a	n/a
3	POLR2A	chr11:34071825-34075659	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:34071900-34075767	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:34070322-34075592	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:34071634-34072212	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:34071827-34072195	K562	blood:	n/a	n/a
8	POLR2A	chr11:34071865-34072019	K562	blood:	n/a	n/a
9	POLR2A	chr11:34071426-34076005	K562	blood:	n/a	n/a
10	BACH1	chr11:34071966-34072143	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34042157..34043774-chr11:34070520..34073015,2	MCF-7	breast:
2	chr1:149222363..149225341-chr11:34071940..34074204,2	MCF-7	breast:
3	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
4	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
5	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
6	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
7	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:

No data

Variant related genes	Relation type
CAPRIN1	TF binding region
ENSG00000166016	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000135372	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10768047	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11606854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418005	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419629	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925114	1.00[YRI][hapmap]
rs16925115	1.00[YRI][hapmap]
rs16925121	1.00[YRI][hapmap]
rs16925126	1.00[YRI][hapmap]
rs16925134	1.00[YRI][hapmap]
rs16925147	1.00[YRI][hapmap]
rs16925153	1.00[YRI][hapmap]
rs16925155	1.00[YRI][hapmap]
rs16925160	1.00[YRI][hapmap]
rs16925163	1.00[YRI][hapmap]
rs16925167	1.00[YRI][hapmap]
rs16925170	1.00[YRI][hapmap]
rs16925173	1.00[YRI][hapmap]
rs16925175	1.00[YRI][hapmap]
rs16925177	1.00[YRI][hapmap]
rs16925181	1.00[YRI][hapmap]
rs16925182	1.00[YRI][hapmap]
rs16925183	1.00[YRI][hapmap]
rs16925184	1.00[YRI][hapmap]
rs17367679	1.00[YRI][hapmap]
rs7102797	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104352	1.00[YRI][hapmap]
rs7117217	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117410	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7125948	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486551	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497025	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7483997	1.00[YRI][hapmap]
rs7925202	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7951306	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7951527	1.00[YRI][hapmap]
rs7951543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8191	1.00[YRI][hapmap]
rs958332	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424593	chr11:34071901-34074749	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34066400-34072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:34066800-34072200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:34067000-34072200	Weak transcription	GM12878-XiMat	blood
4	chr11:34067000-34072400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:34067200-34072400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:34067200-34072600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:34067400-34072200	Weak transcription	HUVEC	blood vessel
8	chr11:34067800-34072200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:34068200-34072200	Weak transcription	Fetal Brain Male	brain
10	chr11:34070600-34072600	Enhancers	Placenta	Placenta
11	chr11:34071200-34072200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:34071200-34072200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:34071600-34072200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:34071600-34072200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:34071600-34072200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:34071600-34072200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:34071600-34072200	Enhancers	HepG2	liver
18	chr11:34071600-34072200	Enhancers	NHEK	skin
19	chr11:34071600-34072400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:34071600-34072400	Enhancers	Adipose Nuclei	Adipose
21	chr11:34071600-34072400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:34071600-34072400	Enhancers	Fetal Intestine Small	intestine
23	chr11:34071600-34072400	Enhancers	HSMMtube	muscle
24	chr11:34071600-34072400	Enhancers	Osteobl	bone
25	chr11:34071800-34072200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:34071800-34072200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:34071800-34072200	Enhancers	Primary hematopoietic stem cells	blood
28	chr11:34071800-34072200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:34071800-34072200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:34071800-34072200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:34071800-34072200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:34071800-34072200	Enhancers	Hela-S3	cervix
33	chr11:34071800-34072200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr11:34071800-34072400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:34071800-34072400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:34071800-34072400	Enhancers	Fetal Heart	heart
37	chr11:34071800-34072400	Enhancers	Fetal Intestine Large	intestine
38	chr11:34071800-34072400	Enhancers	Fetal Kidney	kidney
39	chr11:34071800-34072400	Enhancers	Fetal Muscle Leg	muscle
40	chr11:34071800-34072400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:34071800-34072400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:34071800-34072400	Enhancers	HMEC	breast
43	chr11:34071800-34072400	Enhancers	HSMM	muscle
44	chr11:34071800-34072400	Enhancers	NH-A	brain
45	chr11:34071800-34072600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:34071800-34072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:34071800-34072800	Flanking Active TSS	K562	blood
48	chr11:34072000-34072200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:34072000-34072200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:34072000-34072200	Active TSS	HUES64 Cell Line	embryonic stem cell

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